Not currently registered for phenotyping at IMPC
Phenotyping is currently not planned for a knockout strain of this gene.
Gene Summary
IMPC Data Collections
- No Body Weight Data
- No Embryo Imaging Data
- No Viability Data
Phenotyping is currently not planned for a knockout strain of this gene.
The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.
Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.
The table below shows human diseases associated to Smchd1 by orthology or direct annotation.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Bosma Arhinia Microphthalmia Syndrome | Hypospadias, Hypoplastic labia majora, Hypogonadotropic hypogonadism, Micropenis, Cryptorchidism | OMIM:603457 | |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome | Hypogonadism, External genital hypoplasia, Hypoplasia of penis, Cryptorchidism | ORPHA:2250 | |
Facioscapulohumeral Muscular Dystrophy 2, Digenic | OMIM:158901 | ||
Facioscapulohumeral Dystrophy | ORPHA:269 |
The table below shows human diseases predicted to be associated to Smchd1 by phenotypic similarity.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Leydig Cell Hypoplasia | Hypospadias, Hyoplasia of the Leydig cells, Aplasia of the uterus, Abnormal internal genitalia, A... | ORPHA:755 | |
46,Xy Sex Reversal 7 | Gonadal dysgenesis, male, Sex reversal, Streak ovary, Gonadoblastoma, Hypoplasia of the fallopian... | OMIM:233420 | |
Bosma Arhinia Microphthalmia Syndrome | Hypospadias, Hypoplastic labia majora, Hypogonadotropic hypogonadism, Micropenis, Cryptorchidism | OMIM:603457 | |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome | Hypogonadism, External genital hypoplasia, Hypoplasia of penis, Cryptorchidism | ORPHA:2250 | |
Facioscapulohumeral Muscular Dystrophy 2, Digenic | OMIM:158901 | ||
Facioscapulohumeral Dystrophy | ORPHA:269 |
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